RESUMO
Background: Cancer predisposition syndromes (CPS) are rare diseases that are associated with an increased risk of cancer due to genetic alterations. At least 8 % of all cases of childhood cancer are attributable to CPS [1, 2]. The CPS registry was launched in 2017 to learn more about CPS and to improve the care to those afflicted by these diseases. Methods: This is an internationally networked registry with associated accompanying studies that investigate cancer risks and spectra, the possibilities of cancer prevention, early detection and therapy. Results: For several of these syndromes, new insights into the cancer risks and cancer types as well as factors modifying cancer risk have been gained. In addition, experimental, psycho-oncological, preclinical and clinical studies were initiated. Conclusions: The CPS registry is an example of how progress can be made within a short period of time to the benefit of individuals with rare diseases through systematic data collection and research.
RESUMO
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype-phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype-phenotype correlations encouraging further analyses.
Assuntos
Neoplasias do Córtex Suprarrenal , Carcinoma Adrenocortical , Síndrome de Li-Fraumeni , Neoplasias do Córtex Suprarrenal/genética , Carcinoma Adrenocortical/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Humanos , Síndrome de Li-Fraumeni/diagnóstico , Síndrome de Li-Fraumeni/epidemiologia , Síndrome de Li-Fraumeni/genética , Sistema de Registros , Proteína Supressora de Tumor p53/genéticaRESUMO
Background Treating children with cancer requires multiple different skills. For the healthcare personnel (HCP) in Germany the practice of ongoing training to improve professional skills is almost non-existent. Therefore, we developed a programme called 'SICKO' to support HCPs skills and attitudes by means of a multidisciplinary workshop. Methods Following a qualitative analysis, we then designed a modular (3 day) workshop. During day one (8 h) participants learn practical skills, the fundamentals of chemotherapy, and effective communication skills. Workshop day 2 (8 h) includes education regarding the complications of cancer therapy (e. g. tumour-lysis syndrome, delayed methotrexate excretion), and their management. Topics during day 3 (8 h) include 'breaking bad news', conflict management in the team, infusion-related complications and 'crew resource management' (CRM). Results 43 nurses and 33 physicians participated between 2013 and 2015. All participants highly recommend the workshop. Participants felt that knowledge increased significantly after workshops and were more confident regarding challenging communications. Discussion/Conclusions Although long-term effects have not yet been evaluated, 'SICKO' offers the opportunity for HCP to train and experience simulated day-to-day challenges in the field of paediatric oncology.
